Korelasi Genotip-Fenotip Pasien Talasemia Beta Di Kota Samarinda Kalimantan Timur Tahun 2019
Abstract
Abstract
Thalassemia is a genetic blood disorder that is autosomal recessive and is quite common throughout the world. This study aims to determine the relationship of Hemoglobin beta (HBB) gene mutations types with clinical levels and hematological in the subjects of 31 thalassemia-beta patients in Samarinda City. Blood samples were taken from patients to obtain their DNA then amplified them with the Polymerase Chain Reaction and direct sequencing techniques to analyze the hemoglobin-beta gene mutation. Javanese ethnics is the most dominant in this study (64.5%) and the most common clinical levels is the moderate category (77.4%). The mean MCV and MCH values were 72±5,5 fL and 24±3,3 pg. DNA analysis found 8 types of mutant alleles including 48.4% of Cd26 / HbE (GAG>AAG), 14.5% of IVS-1-5 (G>C) 12.9% of IVS-1-2 (T>C, ,8.1% of Cd35 (-C) , 6.5% of IVS-1-1 (G>T) 3.2% of Cd30 (AGG>ACG) , Cd60 (GTG>GAG) and Cd2 (CAT>CAC ) are 1.6% each. This study found mutations that had not been previously reported in Indonesia, namely Cd60 (GTG>GAG) and Cd2 (CAT>CAC). Spearman rank statistical tests show there is no significant relationship between the two studied variables.
Keyword: Beta-thalassemia mutation, Clinical levels, Hematological
Abstrak
Talasemia merupakan salah satu kelainan darah genetik yang bersifat autosomal resesif dan cukup banyak ditemui di seluruh dunia. Diperkirakan 3-10 persen masyarakat Indonesia adalah pembawa sifat talasemia dengan berbagai macam latar belakang etnik. Studi ini bertujuan untuk mengetahui hubungan jenis mutasi gen hemoglobin beta (HBB) dengan derajat klinis dan pemeriksaan darah pada 31 pasien talasemia-beta di Kota Samarinda Provinsi Kalimantan Timur pada bulan Mei tahun 2019. Sampel darah pasien diambil untuk memperoleh DNA kemudian dilakukan amplifikasi dengan Polymerase Chain Reaction dan dilakukan teknik direct sekuensing untuk menganalisis mutasi gen hemoglobin-beta. Etnik Jawa merupakan yang dominan dalam penelitian ini (64,5%) dan derajat klinis paling umum adalah kategori sedang (77,4%). Rerata nilai MCV dan MCH masing-masing adalah 72±5,5 fL dan 24±3,3 pg. Analisa DNA didapatkan 8 jenis alel mutan yaitu Cd26/HbE (GAG>AAG) 48,4% selanjutnya IVS-1-5 (G>C) 14,5%, IVS-1-2 (T>C) 12,9%, Cd35 (-C) 8,1%, IVS-1-1 (G>T) 6,5%, Cd30 (AGG>ACG) 3,2%, Cd60 (GTG>GAG) dan Cd2 (CAT>CAC) masing-masing 1,6%. Studi ini menemukan mutasi yang belum dilaporkan pada penelitian sebelumnya di Indonesia yaitu Cd60 (GTG>GAG) dan Cd2 (CAT>CAC). Uji statistik spearman rank menunjukkan tidak terdapat hubungan bermakna antara ke dua variabel yang diteliti.
Kata kunci: Mutasi talasemia beta, Derajat klinis, Hematologis
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